Skip to main content
Erschienen in: Pediatric Rheumatology 1/2017

Open Access 01.12.2017 | Letter to the Editor

“Next generation sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease”

verfasst von: Afolake T. Arowolo, Henry A. Adeola, Nonhlanhla P. Khumalo

Erschienen in: Pediatric Rheumatology | Ausgabe 1/2017

Dear Editor,
With great interest, we read Zrhidri et al.’s paper [1] which reports compound heterozygous mutations in exon 4 and 9 of the GNPTG gene, in a familial scleroderma-like disease. This novel finding represents an important addition to the family of genetic mutations previously associated with multisystemic fibrosis and scleroderma-like diseases in literature. Further, elucidating pathogenetic mechanisms of genetic systemic fibrosis could potentially lead to discovery of effective treatment of auto-immune systemic sclerosis and related diseases, and alleviate severe morbidity and mortality.
Although the authors focused on scleroderma-like manifestations found in Mucolipidosis type III (pseudo-Hurler polydystrophy), it would have also been useful to mention other genes associated with a scleroderma-like phenotype in their study discussion. Some examples are listed below:
  • FAM 111B gene for scleroderma and multisystemic fibrosis-like hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) [2]
  • RECQL4 gene for Rothmund Thomson Syndrome (RTS) [3],
  • WRN gene for Werner syndrome (WS) [4]
  • LMNA gene in Hutchinson-Gilford progeria syndrome (HGPS) [5]
Finally, considering the multifactorial etiology of fibrosis, it would be interesting to see how the new gene (GNPTG) compares to other genes involved in scleroderma-like diseases such as FAM 111B (POIKTMP), RECLQL4 (RTS), WRN (WS) and LMNA (HGPS); and if there are possible gene interactions, considering the similarities in the phenotype produced.

Acknowledgements

HAA thanks the South African Medical Research Council (SAMRC) for a mid-career scientist research grant. NPK thanks the SAMRC, the National Research Foundation South African Research Chair Initiative, the National Skills Fund (NSF) and the Services SETA (Sector Education and Training Authority).

Funding

Not applicable.

Availability of data and materials

Data sharing not applicable to this article as no datasets were generated or analysed.
Not applicable.
All authors have given consent for publication.

Competing interests

The authors declare that they have no conflict interest.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://​creativecommons.​org/​licenses/​by/​4.​0/​), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://​creativecommons.​org/​publicdomain/​zero/​1.​0/​) applies to the data made available in this article, unless otherwise stated.
Literatur
1.
Zurück zum Zitat Zrhidri A, Amasdl S, Lyahyai J, Elouardi H, Chkirate B, Raymond L, et al. Next generation sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease. Pediatr Rheumatol. 2017;15(1):72.CrossRef Zrhidri A, Amasdl S, Lyahyai J, Elouardi H, Chkirate B, Raymond L, et al. Next generation sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease. Pediatr Rheumatol. 2017;15(1):72.CrossRef
2.
Zurück zum Zitat Mercier S, Küry S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, et al. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet. 2013;93(6):1100–7.CrossRefPubMedPubMedCentral Mercier S, Küry S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, et al. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet. 2013;93(6):1100–7.CrossRefPubMedPubMedCentral
4.
Zurück zum Zitat Goto M, Okawa-Takatsuji M, Aotsuka S, Nakai H, Shimizu M, Goto H, et al. Significant elevation of IgG anti-WRN (RecQ3 RNA/DNA helicase) antibody in systemic sclerosis. Mod Rheumatol. 2006;16:229–34.CrossRefPubMed Goto M, Okawa-Takatsuji M, Aotsuka S, Nakai H, Shimizu M, Goto H, et al. Significant elevation of IgG anti-WRN (RecQ3 RNA/DNA helicase) antibody in systemic sclerosis. Mod Rheumatol. 2006;16:229–34.CrossRefPubMed
5.
Zurück zum Zitat Kim HK, Lee JY, Bae EJ, Oh PS, Park WI, Lee DS, et al. Hutchinson-Gilford progeria syndrome with G608G LMNA mutation. J Korean Med Sci. 2011 Dec;26(12):1642–5.CrossRefPubMedPubMedCentral Kim HK, Lee JY, Bae EJ, Oh PS, Park WI, Lee DS, et al. Hutchinson-Gilford progeria syndrome with G608G LMNA mutation. J Korean Med Sci. 2011 Dec;26(12):1642–5.CrossRefPubMedPubMedCentral
Metadaten
Titel
“Next generation sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease”
verfasst von
Afolake T. Arowolo
Henry A. Adeola
Nonhlanhla P. Khumalo
Publikationsdatum
01.12.2017
Verlag
BioMed Central
Erschienen in
Pediatric Rheumatology / Ausgabe 1/2017
Elektronische ISSN: 1546-0096
DOI
https://doi.org/10.1186/s12969-017-0215-8

Weitere Artikel der Ausgabe 1/2017

Pediatric Rheumatology 1/2017 Zur Ausgabe

Update Pädiatrie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.